Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
Gene
2020
749
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Am J Hum Genet
2020
106
2
246-255
Reclassification of genetic variants in children with long QT syndrome.
Mol Genet Genomic Med
2020
8
9
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
Ann Clin Transl Neurol
2020
7
8
1340-1351
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat
2020
41
5
998-1011
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
EBioMedicine
2020
54
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
2020
88
5
867-877
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
Clin Genet
2020
98
6
571-576
Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease.
Mov Disord
2020
35
7
1245-1248
A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter.
PLoS ONE
2020
15
4